ID   ND32947
AC   CVCL_EY82
DR   Coriell; ND32947
DR   NHCDR; ND32947
DR   Wikidata; Q54929622
RX   PubMed=22855461;
RX   PubMed=22952635;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11571; TARDBP; Simple; p.Gly298Ser (c.892G>A); ClinVar=VCV000005232; Zygosity=Heterozygous (PubMed=22952635).
CC   Discontinued: Coriell; ND32947; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C168752; Amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
DI   ORDO; Orphanet_275872; Frontotemporal dementia with motor neuron disease
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   64Y
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 10-04-25; Version: 13
//
RX   PubMed=22855461; DOI=10.1126/scitranslmed.3004052;
RA   Egawa N., Kitaoka S., Tsukita K., Naitoh M., Takahashi K.,
RA   Yamamoto T., Adachi F., Kondo T., Okita K., Asaka I., Aoi T.,
RA   Watanabe A., Yamada Y., Morizane A., Takahashi J., Ayaki T., Ito H.,
RA   Yoshikawa K., Yamawaki S., Suzuki S., Watanabe D., Hioki H.,
RA   Kaneko T., Makioka K., Okamoto K., Takuma H., Tamaoka A., Hasegawa K.,
RA   Nonaka T., Hasegawa M., Kawata A., Yoshida M., Nakahata T.,
RA   Takahashi R., Marchetto M.C.N., Gage F.H., Yamanaka S., Inoue H.;
RT   "Drug screening for ALS using patient-specific induced pluripotent
RT   stem cells.";
RL   Sci. Transl. Med. 4:145ra104.1-145ra104.8(2012).
//
RX   PubMed=22952635; DOI=10.1371/journal.pone.0043099; PMCID=PMC3428297;
RA   Wray S., Self M., Lewis P.A., Taanman J.-W., Ryan N.S., Mahoney C.J.,
RA   Liang Y.-Y., Devine M.J., Sheerin U.-M., Houlden H., Morris H.R.,
RA   Healy D., Marti-Masso J.-F., Preza E., Barker S., Sutherland M.,
RA   Corriveau R.A., D'Andrea M., Schapira A.H.V., Uitti R.J., Guttman M.,
RA   Opala G., Jasinska-Myga B., Puschmann A., Nilsson C., Espay A.J.,
RA   Slawek J., Gutmann L., Boeve B.F., Boylan K., Stoessl A.J., Ross O.A.,
RA   Maragakis N.J., Van Gerpen J.A., Gerstenhaber M., Gwinn-Hardy K.A.,
RA   Dawson T.M., Isacson O., Marder K.S., Clark L.N., Przedborski S.E.,
RA   Finkbeiner S., Rothstein J.D., Wszolek Z.K., Rossor M.N., Hardy J.;
RG   NINDS ALS iPSC Consortium;
RG   NINDS Huntington's Disease iPSC Consortium;
RG   NINDS Parkinson's Disease iPSC Consortium;
RT   "Creation of an open-access, mutation-defined fibroblast resource for
RT   neurological disease research.";
RL   PLoS ONE 7:e43099.1-e43099.8(2012).
//